Figure 7

The penetrance of a mutation lies on a scale between 'True SNPs' which show no phenotypic effect at one extreme to Mendelianly inherited PDs with 100% penetrance at the other. In SAAPdb, we use a very conservative definition of PDs, but a rather wide definition of SNPs. In contrast, HumVar uses a somewhat broader definition of PDs, but a much more conservative definition of SNPs and does not consider mutations that lie in the middle.